Kasapkara ÇS - Search Results

1

SLC35A2-CDG: novel variants with two ends of the spectrum.

Kasapkara ÇS, Ceylan AC, Özyürek H, Karakaya Molla G, Civelek Ürey B, Kıreker Köylü O, Küçükçongar Yavaş A, Sönmez FM. Kasapkara ÇS, et al. J Pediatr Endocrinol Metab. 2021 Jun 22;34(9):1185-1189. doi: 10.1515/jpem-2021-0292. Print 2021 Sep 27. J Pediatr Endocrinol Metab. 2021. PMID: 34161696

2

SRD5A3-CDG: a patient with a novel mutation.

Kasapkara CS, Tümer L, Ezgü FS, Hasanoğlu A, Race V, Matthijs G, Jaeken J. Kasapkara CS, et al. Eur J Paediatr Neurol. 2012 Sep;16(5):554-6. doi: 10.1016/j.ejpn.2011.12.011. Epub 2012 Jan 10. Eur J Paediatr Neurol. 2012. PMID: 22240719

3

Key features and clinical variability of COG6-CDG.

Rymen D, Winter J, Van Hasselt PM, Jaeken J, Kasapkara C, Gokçay G, Haijes H, Goyens P, Tokatli A, Thiel C, Bartsch O, Hecht J, Krawitz P, Prinsen HC, Mildenberger E, Matthijs G, Kornak U. Rymen D, et al. Mol Genet Metab. 2015 Nov;116(3):163-70. doi: 10.1016/j.ymgme.2015.07.003. Epub 2015 Jul 29. Mol Genet Metab. 2015. PMID: 26260076

4

The variable clinical phenotype of three patients with hepatic glycogen synthase deficiency.

Kasapkara ÇS, Aycan Z, Açoğlu E, Senel S, Oguz MM, Ceylaner S. Kasapkara ÇS, et al. J Pediatr Endocrinol Metab. 2017 Apr 1;30(4):459-462. doi: 10.1515/jpem-2016-0317. J Pediatr Endocrinol Metab. 2017. PMID: 28245189

5

A rare case of primary coenzyme Q10 deficiency due to COQ9 mutation.

Olgac A, Öztoprak Ü, Kasapkara ÇS, Kılıç M, Yüksel D, Derinkuyu EB, Taşçı Yıldız Y, Ceylaner S, Ezgu FS. Olgac A, et al. Among authors: kasapkara cs. J Pediatr Endocrinol Metab. 2020 Jan 28;33(1):165-170. doi: 10.1515/jpem-2019-0245. J Pediatr Endocrinol Metab. 2020. PMID: 31821167

6

Alpha methyl acyl CoA racemase deficiency: Diagnosis with isolated elevated liver enzymes.

Gündüz M, Ünal Ö, Küçükçongar-Yavaş A, Kasapkara Ç. Gündüz M, et al. Turk J Pediatr. 2019;61(2):289-291. doi: 10.24953/turkjped.2019.02.023. Turk J Pediatr. 2019. PMID: 31951345 Free article.

7

Genotypes and estimated prevalence of phosphomannomutase 2 deficiency in Turkey differ significantly from those in Europe.

Yıldız Y, Arslan M, Çelik G, Kasapkara ÇS, Ceylaner S, Dursun A, Sivri HS, Coşkun T, Tokatlı A. Yıldız Y, et al. Among authors: kasapkara cs. Am J Med Genet A. 2020 Apr;182(4):705-712. doi: 10.1002/ajmg.a.61488. Epub 2020 Jan 25. Am J Med Genet A. 2020. PMID: 31981409

8

Carbonic anhydrase VA deficiency: a very rare case of hyperammonemic encephalopathy.

Olgac A, Kasapkara CS, Kilic M, Keskin EY, Sandal G, Cram DS, Haberle J, Torun D. Olgac A, et al. Among authors: kasapkara cs. J Pediatr Endocrinol Metab. 2020 Aug 18;33(10):1349-1352. doi: 10.1515/jpem-2020-0117. J Pediatr Endocrinol Metab. 2020. PMID: 32809955 Free article.

9

Malonyl coenzyme A decarboxylase deficiency with a novel mutation.

Kasapkara CS, Civelek Ürey B, Ceylan AC, Ünal Uzun Ö, Çetin II. Kasapkara CS, et al. Cardiol Young. 2021 Sep;31(9):1535-1537. doi: 10.1017/S104795112100113X. Epub 2021 Mar 22. Cardiol Young. 2021. PMID: 33745485

10

Congenital defects of glycosylation: Novel presentations with mainly neurological involvement and variable dysmorphic features.

İnci A, Cengiz B, Biberoğlu G, Okur İ, Arhan E, Öner AY, Kasapkara ÇS, Küçükçongar A, Tümer L, Ezgu F. İnci A, et al. Among authors: kasapkara cs. Am J Med Genet A. 2021 Sep;185(9):2739-2747. doi: 10.1002/ajmg.a.62247. Epub 2021 May 7. Am J Med Genet A. 2021. PMID: 33960646

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